1175[Gene ID] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 133

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 1194555	NC_000019.10:g.46838160C>T	AP2S1	Single nucleotide variant	not provided	GLikely benign
Select item 1277070	NM_004069.6(AP2S1):c.*210C>T	AP2S1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1215661	NM_004069.6(AP2S1):c.*70G>A	AP2S1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1670990	NM_004069.6(AP2S1):c.387G>A (p.Thr129=)	AP2S1	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia 3 +1 more	GLikely benign
Select item 2893299	NM_004069.6(AP2S1):c.386C>T (p.Thr129Met)	AP2S1 (T145M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173956	NM_004069.6(AP2S1):c.364G>A (p.Glu122Lys)	AP2S1 (E124K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448006	NM_004069.6(AP2S1):c.363C>T (p.Gly121=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998652	NM_004069.6(AP2S1):c.360T>G (p.Ala120=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885054	NM_004069.6(AP2S1):c.357G>A (p.Leu119=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3256233	NM_004069.6(AP2S1):c.346G>A (p.Glu116Lys)	AP2S1 (E116K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231614	NM_004069.6(AP2S1):c.344A>G (p.Asp115Gly)	AP2S1 (D117G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1148629	NM_004069.6(AP2S1):c.336G>A (p.Thr112=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150903	NM_004069.6(AP2S1):c.335C>T (p.Thr112Met)	AP2S1 (T112M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439681	NM_004069.6(AP2S1):c.334A>T (p.Thr112Ser)	AP2S1 (T126S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015205	NM_004069.6(AP2S1):c.328-3C>T	AP2S1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2169264	NM_004069.6(AP2S1):c.328-29_328-9dup	AP2S1	Duplication (intron variant)	not provided	GUncertain significance
Select item 1581812	NM_004069.6(AP2S1):c.328-10C>T	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2428045	NM_004069.6(AP2S1):c.328-11C>T	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208917	NM_004069.6(AP2S1):c.328-22C>T	AP2S1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1697838	NM_004069.6(AP2S1):c.328-30C>T	AP2S1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1198579	NM_004069.6(AP2S1):c.328-79G>T	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1697839	NM_004069.6(AP2S1):c.327+48G>A	AP2S1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1141389	NM_004069.6(AP2S1):c.327+8C>T	AP2S1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2134454	NM_004069.6(AP2S1):c.327+5G>A	AP2S1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2879224	NM_004069.6(AP2S1):c.303G>A (p.Leu101=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 450031	NM_004069.6(AP2S1):c.302T>C (p.Leu101Pro)	AP2S1 (L101P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013776	NM_004069.6(AP2S1):c.297T>C (p.Cys99=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170719	NM_004069.6(AP2S1):c.294C>T (p.Val98=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848182	NM_004069.6(AP2S1):c.285C>T (p.Phe95=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183239	NM_004069.6(AP2S1):c.276C>T (p.Asn92=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886731	NM_004069.6(AP2S1):c.268-6T>C	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572733	NM_004069.6(AP2S1):c.268-8T>G	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1697840	NM_004069.6(AP2S1):c.268-26T>G	AP2S1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1287454	NM_004069.6(AP2S1):c.268-183T>A	AP2S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269679	NM_004069.6(AP2S1):c.268-264C>G	AP2S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186055	NM_004069.6(AP2S1):c.267+309C>T	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190212	NM_004069.6(AP2S1):c.267+37T>G	AP2S1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1190082	NM_004069.6(AP2S1):c.267+33C>G	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707202	NM_004069.6(AP2S1):c.267+31G>A	AP2S1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1209044	NM_004069.6(AP2S1):c.267+30A>G	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2423728	NM_004069.6(AP2S1):c.267+19G>A	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1612869	NM_004069.6(AP2S1):c.267+8G>A	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 999396	NM_004069.6(AP2S1):c.267+7C>T	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259227	NM_004069.6(AP2S1):c.267+5G>A	AP2S1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1415032	NM_004069.6(AP2S1):c.267+4C>T	AP2S1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 999292	NM_004069.6(AP2S1):c.267+4C>G	AP2S1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1167857	NM_004069.6(AP2S1):c.261C>T (p.Phe87=)	AP2S1	Single nucleotide variant (synonymous variant +1 more)	Familial hypocalciuric hypercalcemia 3 +1 more	GBenign/Likely benign
Select item 2610747	NM_004069.6(AP2S1):c.250A>G (p.Ile84Val)	AP2S1 (I84V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1094500	NM_004069.6(AP2S1):c.241C>T (p.Leu81=)	AP2S1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998564	NM_004069.6(AP2S1):c.236C>T (p.Ala79Val)	AP2S1 (A79V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2836555	NM_004069.6(AP2S1):c.209G>A (p.Cys70Tyr)	AP2S1 (C70Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1438141	NM_004069.6(AP2S1):c.205A>G (p.Ile69Val)	AP2S1 (I69V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3029162	NM_004069.6(AP2S1):c.189T>C (p.Ala63=)	AP2S1	Single nucleotide variant (synonymous variant +1 more)	AP2S1-related disorder	GLikely benign
Select item 2817307	NM_004069.6(AP2S1):c.186T>C (p.Tyr62=)	AP2S1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2502631	NM_004069.6(AP2S1):c.182G>A (p.Arg61His)	AP2S1 (R61H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1212464	NM_004069.6(AP2S1):c.181C>T (p.Arg61Cys)	AP2S1 (R61C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 387519	NM_004069.6(AP2S1):c.179G>A (p.Arg60His)	AP2S1 (R60H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993994	NM_004069.6(AP2S1):c.165T>C (p.Phe55=)	AP2S1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3253456	NM_004069.6(AP2S1):c.161A>G (p.Asn54Ser)	AP2S1 (N54S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2847938	NM_004069.6(AP2S1):c.159G>C (p.Arg53=)	AP2S1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1945362	NM_004069.6(AP2S1):c.154-19C>T	AP2S1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1697841	NM_004069.6(AP2S1):c.154-29C>T	AP2S1 (S56F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1192407	NM_004069.6(AP2S1):c.154-32T>G	AP2S1 (I55S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1236063	NM_004069.6(AP2S1):c.154-94C>T	AP2S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229771	NM_004069.6(AP2S1):c.154-244G>T	AP2S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248270	NM_004069.6(AP2S1):c.154-251_154-248del	AP2S1	Deletion (intron variant)	not provided	GBenign
Select item 1229317	NM_004069.6(AP2S1):c.154-265dup	AP2S1	Duplication (intron variant)	not provided	GBenign
Select item 3256234	NM_004069.6(AP2S1):c.153+30C>T	AP2S1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1590056	NM_004069.6(AP2S1):c.153+17G>A	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902311	NM_004069.6(AP2S1):c.153+14C>T	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564772	NM_004069.6(AP2S1):c.153+13C>T	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2183551	NM_004069.6(AP2S1):c.153+9C>T	AP2S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1149414	NM_004069.6(AP2S1):c.153+6G>A	AP2S1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1395311	NM_004069.6(AP2S1):c.153+5C>T	AP2S1	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia 3 +1 more	GUncertain significance
Select item 3300482	NM_004069.6(AP2S1):c.131C>A (p.Ala44Asp)	AP2S1 (A46D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2174637	NM_004069.6(AP2S1):c.130G>A (p.Ala44Thr)	AP2S1 (A46T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172024	NM_004069.6(AP2S1):c.129C>T (p.Asp43=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408296	NM_004069.6(AP2S1):c.125G>A (p.Arg42Gln)	AP2S1 (R44Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708825	NM_004069.6(AP2S1):c.124C>G (p.Arg42Gly)	AP2S1 (R42G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650141	NM_004069.6(AP2S1):c.120C>T (p.Thr40=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654562	NM_004069.6(AP2S1):c.111C>T (p.Ala37=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1585705	NM_004069.6(AP2S1):c.105G>A (p.Val35=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886716	NM_004069.6(AP2S1):c.96C>T (p.Ile32=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596996	NM_004069.6(AP2S1):c.75T>C (p.Asp25=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1670004	NM_004069.6(AP2S1):c.72T>C (p.Asp24=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369417	NM_004069.6(AP2S1):c.66G>C (p.Gln22His)	AP2S1 (Q22H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895987	NM_004069.6(AP2S1):c.48G>A (p.Leu16=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 39426	NM_004069.6(AP2S1):c.44G>A (p.Arg15His)	AP2S1 (R15H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 39425	NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu)	AP2S1 (R15L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 39424	NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys)	AP2S1 (R15C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1642916	NM_004069.6(AP2S1):c.42G>T (p.Thr14=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1079703	NM_004069.6(AP2S1):c.42G>A (p.Thr14=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175279	NM_004069.6(AP2S1):c.30G>A (p.Arg10=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809865	NM_004069.6(AP2S1):c.29G>A (p.Arg10Gln)	AP2S1 (R10Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421594	NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp)	AP2S1 (R10W +2 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 3 +3 more	GConflicting classifications of pathogenicity
Select item 2708810	NM_004069.6(AP2S1):c.18C>T (p.Leu6=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133465	NM_004069.6(AP2S1):c.15C>T (p.Ile5=)	AP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 2