LOC100130283[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 147349	GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3	LOC112486224, LOC112486225 +58 more	Copy number gain	See cases	GUncertain significance
Select item 59952	GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3	ABAT, CARHSP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 151192	GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3	ABAT, CARHSP1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 150852	GRCh38/hg38 16p13.2(chr16:8708620-9180671)x1	ABAT, CARHSP1 +46 more	Copy number loss	See cases	GUncertain significance
Select item 59953	GRCh38/hg38 16p13.2(chr16:8752152-9094202)x3	ABAT, CARHSP1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 58248	GRCh38/hg38 16p13.2(chr16:8752152-8979353)x1	ABAT, CARHSP1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 151587	GRCh38/hg38 16p13.2(chr16:8767999-8939742)x3	ABAT, CARHSP1 +21 more	Copy number gain	See cases	GLikely benign
Select item 57446	GRCh38/hg38 16p13.2(chr16:8767999-8939801)x1	ABAT, CARHSP1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 59954	GRCh38/hg38 16p13.2(chr16:8831989-9153027)x3	CARHSP1, CARHSP1-DT +40 more	Copy number gain	See cases	GUncertain significance
Select item 2465589	NM_014316.4(CARHSP1):c.408G>C (p.Lys136Asn)	CARHSP1, LOC100130283 (K136N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2204063	NM_014316.4(CARHSP1):c.338C>T (p.Ser113Phe)	CARHSP1, LOC100130283 (S113F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544266	NM_014316.4(CARHSP1):c.305T>C (p.Val102Ala)	CARHSP1, LOC100130283 (V102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137370	NM_014316.4(CARHSP1):c.259G>C (p.Asp87His)	CARHSP1, LOC100130283 (D87H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408700	NM_014316.4(CARHSP1):c.253G>A (p.Gly85Ser)	CARHSP1, LOC100130283 (G85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137369	NM_014316.4(CARHSP1):c.248A>C (p.Asp83Ala)	CARHSP1, LOC100130283 (D83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353547	NM_014316.4(CARHSP1):c.248A>T (p.Asp83Val)	CARHSP1, LOC100130283 (D83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557411	NM_014316.4(CARHSP1):c.239C>A (p.Thr80Asn)	CARHSP1, LOC100130283 (T80N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263322	NM_014316.4(CARHSP1):c.215G>A (p.Arg72Gln)	CARHSP1, LOC100130283 (R72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507890	NM_014316.4(CARHSP1):c.184G>T (p.Val62Phe)	CARHSP1, LOC100130283 (V62F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589147	NM_014316.4(CARHSP1):c.176A>G (p.Gln59Arg)	CARHSP1, LOC100130283 (Q59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263321	NM_014316.4(CARHSP1):c.167G>A (p.Arg56Gln)	CARHSP1, LOC100130283 (R56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557472	NM_014316.4(CARHSP1):c.167G>T (p.Arg56Leu)	CARHSP1, LOC100130283 (R56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454445	NM_014316.4(CARHSP1):c.161C>T (p.Thr54Met)	CARHSP1, LOC100130283 (T54M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295999	NM_014316.4(CARHSP1):c.155C>T (p.Ser52Leu)	CARHSP1, LOC100130283 (S52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646183	NM_014316.4(CARHSP1):c.150C>G (p.Thr50=)	CARHSP1, LOC100130283	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3137368	NM_014316.4(CARHSP1):c.130C>G (p.Pro44Ala)	CARHSP1, LOC100130283 (P44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458969	NM_014316.4(CARHSP1):c.112G>A (p.Val38Met)	CARHSP1, LOC100130283 (V38M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137367	NM_014316.4(CARHSP1):c.104G>A (p.Arg35Gln)	CARHSP1, LOC100130283 (R35Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137373	NM_014316.4(CARHSP1):c.86G>C (p.Arg29Pro)	CARHSP1, LOC100130283 (R29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599606	NM_014316.4(CARHSP1):c.86G>A (p.Arg29His)	CARHSP1, LOC100130283 (R29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137372	NM_014316.4(CARHSP1):c.79C>T (p.Arg27Cys)	CARHSP1, LOC100130283 (R27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290796	NM_014316.4(CARHSP1):c.77G>A (p.Ser26Asn)	CARHSP1, LOC100130283 (S26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507747	NM_014316.4(CARHSP1):c.74G>A (p.Arg25Gln)	CARHSP1, LOC100130283 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622955	NM_014316.4(CARHSP1):c.73C>G (p.Arg25Gly)	CARHSP1, LOC100130283 (R25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607749	NM_014316.4(CARHSP1):c.68C>G (p.Thr23Ser)	CARHSP1, LOC100130283 (T23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137371	NM_014316.4(CARHSP1):c.43C>G (p.Gln15Glu)	CARHSP1, LOC100130283 (Q15E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 41