SLC25A37 unknown - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2227021	NM_016612.4(SLC25A37):c.46A>G (p.Arg16Gly)	LOC130000035, SLC25A37 (R16G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619266	NM_016612.4(SLC25A37):c.91A>T (p.Thr31Ser)	LOC130000035, SLC25A37 (T31S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293359	NM_016612.4(SLC25A37):c.125G>C (p.Ser42Thr)	LOC130000035, SLC25A37 (S42T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474053	NM_016612.4(SLC25A37):c.128C>G (p.Ala43Gly)	LOC130000035, SLC25A37 (A43G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261555	NM_016612.4(SLC25A37):c.201C>G (p.Asp67Glu)	SLC25A37 (D67E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479529	NM_016612.4(SLC25A37):c.319G>A (p.Val107Ile)	SLC25A37 (V107I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525345	NM_016612.4(SLC25A37):c.389G>A (p.Arg130Lys)	SLC25A37 (R130K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610110	NM_016612.4(SLC25A37):c.488C>T (p.Pro163Leu)	SLC25A37 (P163L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318412	NM_016612.4(SLC25A37):c.499G>A (p.Val167Met)	SLC25A37 (V167M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321667	NM_016612.4(SLC25A37):c.596G>A (p.Arg199Gln)	SLC25A37 (R48Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552016	NM_016612.4(SLC25A37):c.614T>C (p.Leu205Pro)	SLC25A37 (L205P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773400	NM_016612.4(SLC25A37):c.742G>T (p.Ala248Ser)	SLC25A37 (A176S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2546522	NM_016612.4(SLC25A37):c.769G>A (p.Val257Ile)	SLC25A37 (V185I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345603	NM_016612.4(SLC25A37):c.801C>A (p.Asn267Lys)	SLC25A37 (N195K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224493	NM_016612.4(SLC25A37):c.829G>C (p.Gly277Arg)	SLC25A37 (G205R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782510	NM_016612.4(SLC25A37):c.831C>T (p.Gly277=)	SLC25A37	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2248025	NM_016612.4(SLC25A37):c.863C>T (p.Thr288Met)	SLC25A37 (T137M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1410288	NC_000008.10:g.(?_21900440)_(23564111_?)dup	BIN3, BMP1 +32 more	Duplication	Conotruncal heart malformations	GUncertain significance
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 688470	GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	ADAM28, BIN3 +37 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 686366	GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1	ADAM28, ADAM7 +37 more	Copy number loss	not provided	GPathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	ADAM28, ADAM7 +111 more	Copy number gain	not provided	GPathogenic
Select item 563489	GRCh37/hg19 8p21.3-21.2(chr8:23099163-23515760)x1	ENTPD4, LOXL2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	ADAM28, ADAM7 +77 more	Copy number gain	Intellectual disability, mild +7 more	GPathogenic
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 more	Copy number gain	See cases	GPathogenic

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Items: 44